Norio Niikawa

Sapporo, Japan

Last Updated: 09/26/2026

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Found 13 publications

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.

Journal: Endocrine connections

Published: July 25, 2022

Kabuki syndrome: international consensus diagnostic criteria.

Kabuki syndrome: international consensus diagnostic criteria.

Journal: Journal of medical genetics

Published: July 30, 2018

A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.

A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.

Journal: Human biology

Published: July 27, 2018

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Journal: Clinical genetics

Published: December 09, 2014

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

Journal: Cellular signalling

Published: June 14, 2014

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Journal: American journal of medical genetics. Part A

Published: January 09, 2013

The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations.

The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations.

Journal: Journal of human genetics

Published: November 09, 2012

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.

Journal: Frontiers in genetics

Published: October 15, 2012

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.

Journal: American journal of medical genetics. Part A

Published: August 31, 2012

KDM6A point mutations cause Kabuki syndrome.

KDM6A point mutations cause Kabuki syndrome.

Journal: Human mutation

Published: August 07, 2012

Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.

Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: May 29, 2012

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

Journal: Journal of human genetics

Published: March 09, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026